Chromosome: | chr18 |
Position (hg19): | 21114409 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | splice_donor_variant&intron_variant |
cDNA change: | c.3591+1G>A |
AA change: | |
Exon/intron: | 23 |
dbSNP id: | rs786200877 |
1000g AF: | |
ExAC AF: | 0.000008237 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Ribeiro_et_al._(2001)_Hum_Genet_109:24-32 |